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Volumn 25, Issue 4, 2007, Pages 243-247

Nonsense mutations of the CYBB gene in two Thai families with X-linked chronic granulomatous disease

Author keywords

[No Author keywords available]

Indexed keywords

AMPHOTERICIN B; ANTIBIOTIC AGENT; DIHYDRORHODAMINE 123; PROTEIN CYBB; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE 2; UNCLASSIFIED DRUG;

EID: 40749102565     PISSN: 0125877X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (2)

References (18)
  • 1
    • 0034535555 scopus 로고    scopus 로고
    • Primary phagocytic disorders of childhood
    • Segal BH, Holland SM. Primary phagocytic disorders of childhood. Pediatr Clin North Am 2000; 47: 1311-38.
    • (2000) Pediatr Clin North Am , vol.47 , pp. 1311-1338
    • Segal, B.H.1    Holland, S.M.2
  • 4
    • 0028887591 scopus 로고
    • Flow cytometric analysis of the granulocyte respiratory burst: A comparison study of fluorescent probes
    • Vowells SJ, Sekhsaria S, Malech HL, Shalit M, Fleisher TA. Flow cytometric analysis of the granulocyte respiratory burst: a comparison study of fluorescent probes. J Immunol Methods 1995; 178: 89-97.
    • (1995) J Immunol Methods , vol.178 , pp. 89-97
    • Vowells, S.J.1    Sekhsaria, S.2    Malech, H.L.3    Shalit, M.4    Fleisher, T.A.5
  • 5
    • 0030007343 scopus 로고    scopus 로고
    • Testing for chronic granulomatous disease
    • Vowells SJ, Fleisher TA, Malech HL. Testing for chronic granulomatous disease. Lancet 1996; 347: 1048-9.
    • (1996) Lancet , vol.347 , pp. 1048-1049
    • Vowells, S.J.1    Fleisher, T.A.2    Malech, H.L.3
  • 6
    • 0034040532 scopus 로고    scopus 로고
    • Chronic granulomatous disease. Report on a national registry of 368 patients
    • Winkelstein JA, Marino MC, Johnston RB, Jr., et al. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore) 2000; 79: 155-69.
    • (2000) Medicine (Baltimore) , vol.79 , pp. 155-169
    • Winkelstein, J.A.1    Marino, M.C.2    Johnston Jr., R.B.3
  • 7
    • 0037326490 scopus 로고    scopus 로고
    • Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay
    • Jirapongsananuruk O, Malech HL, Kuhns DB, et al. Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay. J Allergy Clin Immunol 2003; 111: 374-9.
    • (2003) J Allergy Clin Immunol , vol.111 , pp. 374-379
    • Jirapongsananuruk, O.1    Malech, H.L.2    Kuhns, D.B.3
  • 9
    • 0030045762 scopus 로고    scopus 로고
    • Genotype-dependent variability in flow cytometric evaluation of reduced nicotinamide adenine dinucleotide phosphate oxidase function in patients with chronic granulornatous disease
    • Vowells SJ, Fleisher TA, Sekhsaria S, Alling DW, Maguire TE, Malech HL. Genotype-dependent variability in flow cytometric evaluation of reduced nicotinamide adenine dinucleotide phosphate oxidase function in patients with chronic granulornatous disease. J Pcdiatr 1996; 128: 104-7.
    • (1996) J Pcdiatr , vol.128 , pp. 104-107
    • Vowells, S.J.1    Fleisher, T.A.2    Sekhsaria, S.3    Alling, D.W.4    Maguire, T.E.5    Malech, H.L.6
  • 10
    • 13344293679 scopus 로고    scopus 로고
    • Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease
    • Roos D, de Boer M, Kuribayashi F, et al. Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease. Blood 1996; 87: 1663-81.
    • (1996) Blood , vol.87 , pp. 1663-1681
    • Roos, D.1    de Boer, M.2    Kuribayashi, F.3
  • 12
    • 33749425850 scopus 로고    scopus 로고
    • Chronic granulomatous disease; fundamental stages in our understanding of CGD
    • Assari T. Chronic granulomatous disease; fundamental stages in our understanding of CGD. Med Immunol 2006; 5: 4.
    • (2006) Med Immunol , vol.5 , pp. 4
    • Assari, T.1
  • 13
    • 0031777032 scopus 로고    scopus 로고
    • X-Linked chronic granulomatous disease: Mutations in the CYBB gene encoding the gp9l -pbox component of respiratory-burst oxidase
    • Rae J, Newburger PE, Dinauer MC, et al. X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp9l -pbox component of respiratory-burst oxidase. Am J Hum Genet 1998; 62: 1320-31.
    • (1998) Am J Hum Genet , vol.62 , pp. 1320-1331
    • Rae, J.1    Newburger, P.E.2    Dinauer, M.C.3
  • 14
    • 0030296689 scopus 로고    scopus 로고
    • Roos D. X-CGDbase: a database of X-CGD-causing mutations. Immunol Today 1996; 17: 517-21.
    • Roos D. X-CGDbase: a database of X-CGD-causing mutations. Immunol Today 1996; 17: 517-21.
  • 15
    • 19944428278 scopus 로고    scopus 로고
    • Characterization of six novel mutations in the CYBB gene leading to different subtypes of X-linked chronic granulomatous disease
    • Stasia MJ, Bordigoni P, Floret D, et al. Characterization of six novel mutations in the CYBB gene leading to different subtypes of X-linked chronic granulomatous disease. Hum Genet 2005; 116: 72-82.
    • (2005) Hum Genet , vol.116 , pp. 72-82
    • Stasia, M.J.1    Bordigoni, P.2    Floret, D.3
  • 17
    • 14644436352 scopus 로고    scopus 로고
    • Molecular characterization of a novel splice site mutation within the CYBB gene leading to X-linked chronic granulomatous disease
    • Barese CN, Copelli SB, De Matteo E, et al. Molecular characterization of a novel splice site mutation within the CYBB gene leading to X-linked chronic granulomatous disease. Pediatr Blood Cancer 2005; 44: 420-2.
    • (2005) Pediatr Blood Cancer , vol.44 , pp. 420-422
    • Barese, C.N.1    Copelli, S.B.2    De Matteo, E.3
  • 18
    • 33645212829 scopus 로고    scopus 로고
    • Characterization of 17 new cases of X-linked chronic granulomatous disease with seven novel mutations in the CYBB gene
    • von Goessel H, Hossle JP, Seger R, Gungor T. Characterization of 17 new cases of X-linked chronic granulomatous disease with seven novel mutations in the CYBB gene. Exp Hematol 2006; 34: 528-35.
    • (2006) Exp Hematol , vol.34 , pp. 528-535
    • von Goessel, H.1    Hossle, J.P.2    Seger, R.3    Gungor, T.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.